Prenatal diagnosis in factor XIII-A deficiency

Congenital factor XIII deficiency is a severe bleeding disorder that is inh erited as an autosomal recessive trait. The condition is commonly due to ab sence of the factor XIII-A subunit protein in the plasma. The case of a bab y is reported who showed typical clinical features of factor XIII-A deficie ncy, including recurrent bleeding from the umbilical stump and a life threa tening haemorrhage after circumcision. Family studies were performed and mo lecular analysis, using a Short Tandem Repeat (STR) marker closely linked t o the A subunit gene, allowed antenatal exclusion diagnosis to be undertake n in a subsequent pregnancy. The case highlights the importance of seeking a family history of bleeding disorders before surgery in the neonatal perio d, particularly if the parents are consanguineous.